Aliases for SAT1 Gene
External Ids for SAT1 Gene
Previous HGNC Symbols for SAT1 Gene
Previous GeneCards Identifiers for SAT1 Gene
The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009]
GeneCards Summary for SAT1 Gene
SAT1 (Spermidine/Spermine N1-Acetyltransferase 1) is a Protein Coding gene. Diseases associated with SAT1 include Keratosis Follicularis Spinulosa Decalvans, X-Linked and Keratosis Follicularis Spinulosa Decalvans. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Metabolism. GO annotations related to this gene include N-acetyltransferase activity and spermidine binding. An important paralog of this gene is SAT2.
UniProtKB/Swiss-Prot for SAT1 Gene
Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Acts on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine, N(1)-acetylspermidine and N(8)-acetylspermidine.